ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.4077-10C>T (rs145310008)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000123854 SCV000855793 likely benign not specified 2017-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000123854 SCV000167197 benign not specified 2014-02-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000227864 SCV000394434 uncertain significance Bloom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000123854 SCV000918646 uncertain significance not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The BLM c.4077-10C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 189/276718 control chromosomes (1 homozygote) in gnomAD at a frequency of 0.000683, which does not exceed the estimated maximal expected allele frequency of a pathogenic BLM variant (0.0035355). Two clinical diagnostic laboratories classified this variant as benign (2014 and 2017), while one classified it as uncertain significance (2016). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a possibly normal variant until additional information becomes available.
Invitae RCV000227864 SCV000283147 benign Bloom syndrome 2018-01-05 criteria provided, single submitter clinical testing

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